Mutagenetix > Incidental Mutation

Incidental Mutation 'R7184:Enah'

559154

Institutional Source

Beutler Lab

Gene Symbol

Enah

Ensembl Gene

ENSMUSG00000022995

Gene Name

ENAH actin regulator

Synonyms

Ndpp1, Mena

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181896384-182019990 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181922392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 294 (V294E)

Ref Sequence

ENSEMBL: ENSMUSP00000077781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078719] [ENSMUST00000111024] [ENSMUST00000111025] [ENSMUST00000111030] [ENSMUST00000177811] [ENSMUST00000192967] [ENSMUST00000193074] [ENSMUST00000193703] [ENSMUST00000195059]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078719
AA Change: V294E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077781
Gene: ENSMUSG00000022995
AA Change: V294E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	154	258	N/A	INTRINSIC
low complexity region	274	285	N/A	INTRINSIC
low complexity region	308	317	N/A	INTRINSIC
internal_repeat_1	354	366	4.73e-6	PROSPERO
low complexity region	373	392	N/A	INTRINSIC
low complexity region	398	420	N/A	INTRINSIC
low complexity region	430	471	N/A	INTRINSIC
low complexity region	487	507	N/A	INTRINSIC
low complexity region	542	609	N/A	INTRINSIC
low complexity region	665	678	N/A	INTRINSIC
internal_repeat_1	746	758	4.73e-6	PROSPERO
Pfam:VASP_tetra	765	801	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111024

SMART Domains

Protein: ENSMUSP00000106653
Gene: ENSMUSG00000022995

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	239	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
internal_repeat_1	335	347	3.85e-6	PROSPERO
low complexity region	354	373	N/A	INTRINSIC
low complexity region	379	401	N/A	INTRINSIC
low complexity region	411	452	N/A	INTRINSIC
low complexity region	468	488	N/A	INTRINSIC
low complexity region	523	590	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
internal_repeat_1	727	739	3.85e-6	PROSPERO
Pfam:VASP_tetra	745	784	1.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111025

SMART Domains

Protein: ENSMUSP00000106654
Gene: ENSMUSG00000022995

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	240	N/A	INTRINSIC
low complexity region	279	313	N/A	INTRINSIC
low complexity region	368	381	N/A	INTRINSIC
Pfam:VASP_tetra	467	506	2.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111030
AA Change: V279E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106659
Gene: ENSMUSG00000022995
AA Change: V279E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	139	243	N/A	INTRINSIC
low complexity region	259	270	N/A	INTRINSIC
low complexity region	293	302	N/A	INTRINSIC
internal_repeat_1	339	351	3.87e-6	PROSPERO
low complexity region	358	377	N/A	INTRINSIC
low complexity region	383	405	N/A	INTRINSIC
low complexity region	415	456	N/A	INTRINSIC
low complexity region	472	492	N/A	INTRINSIC
low complexity region	527	594	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC
internal_repeat_1	731	743	3.87e-6	PROSPERO
Pfam:VASP_tetra	749	788	1.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177811
AA Change: V279E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136863
Gene: ENSMUSG00000022995
AA Change: V279E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	139	243	N/A	INTRINSIC
low complexity region	259	270	N/A	INTRINSIC
low complexity region	293	302	N/A	INTRINSIC
internal_repeat_1	339	351	4.25e-6	PROSPERO
low complexity region	358	377	N/A	INTRINSIC
low complexity region	383	405	N/A	INTRINSIC
low complexity region	415	456	N/A	INTRINSIC
low complexity region	472	492	N/A	INTRINSIC
low complexity region	527	594	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC
internal_repeat_1	731	743	4.25e-6	PROSPERO
Pfam:VASP_tetra	749	788	2.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192967

SMART Domains

Protein: ENSMUSP00000141330
Gene: ENSMUSG00000022995

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	3	63	1e-3	SMART
low complexity region	70	99	N/A	INTRINSIC
low complexity region	118	138	N/A	INTRINSIC
low complexity region	173	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193074

SMART Domains

Protein: ENSMUSP00000141936
Gene: ENSMUSG00000022995

Domain	Start	End	E-Value	Type
RanBD	7	127	1.5e-4	SMART
WH1	21	128	2.8e-47	SMART
coiled coil region	155	260	N/A	INTRINSIC
low complexity region	262	329	N/A	INTRINSIC
low complexity region	385	398	N/A	INTRINSIC
Pfam:VASP_tetra	484	523	1.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193703

SMART Domains

Protein: ENSMUSP00000141462
Gene: ENSMUSG00000022995

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	240	N/A	INTRINSIC
low complexity region	279	346	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
Pfam:VASP_tetra	501	540	2.5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195059
AA Change: V275E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141344
Gene: ENSMUSG00000022995
AA Change: V275E

Domain	Start	End	E-Value	Type
RanBD	1	107	1.86e-1	SMART
WH1	1	108	3.02e-46	SMART
coiled coil region	135	239	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
internal_repeat_1	335	347	3.85e-6	PROSPERO
low complexity region	354	373	N/A	INTRINSIC
low complexity region	379	401	N/A	INTRINSIC
low complexity region	411	452	N/A	INTRINSIC
low complexity region	468	488	N/A	INTRINSIC
low complexity region	523	590	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
internal_repeat_1	727	739	3.85e-6	PROSPERO
Pfam:VASP_tetra	745	784	1.4e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a targeted mutation show defects in major axonal projection pathways in brain, including malformation of the hippocampal commissure and pontocerebellar fibers and frequent agenesis of the corpus callosum due to a failure of axons to project across the midline during development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,154,515	N294S	probably benign	Het
Aass	A	G	6: 23,094,220	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,357,396	N292K	probably benign	Het
Art2b	A	T	7: 101,580,451	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,102,567	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,491,912	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,429	V383E	probably benign	Het
Cd93	T	C	2: 148,442,539	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,265,655	E138D	probably benign	Het
Cdon	A	G	9: 35,463,895	I406V	probably benign	Het
Cyp3a41a	A	G	5: 145,705,853	V232A	probably benign	Het
Dbndd1	T	A	8: 123,509,121	D130V	probably damaging	Het
Dnah14	C	T	1: 181,704,529	R2294*	probably null	Het
Eddm3b	A	G	14: 51,116,930	Y125C	probably damaging	Het
Farp2	A	G	1: 93,603,415	E545G	probably damaging	Het
Farsb	T	C	1: 78,482,357	E22G	possibly damaging	Het
Fezf1	A	G	6: 23,247,836	V80A	probably benign	Het
Fpr2	T	C	17: 17,893,271	Y39H	unknown	Het
Fsd1l	C	A	4: 53,694,054	R344S	probably damaging	Het
Fuk	G	A	8: 110,887,156	P758S	probably damaging	Het
Fxyd1	G	T	7: 31,051,976	R90S	unknown	Het
Galnt4	T	A	10: 99,108,604	Y64N	probably damaging	Het
Gatb	C	T	3: 85,636,951	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667	D73A	possibly damaging	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm4788	A	G	1: 139,733,084	V622A	possibly damaging	Het
Gpr88	C	T	3: 116,251,994	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,584,004	N55S	probably benign	Het
Htr4	T	A	18: 62,437,427	C184*	probably null	Het
Ighv6-3	T	A	12: 114,391,855	R71S	probably benign	Het
Itpr2	G	C	6: 146,311,087	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,233,838	Q292R	probably benign	Het
Malt1	A	C	18: 65,447,693	E219D	probably benign	Het
Manba	T	C	3: 135,523,154	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,874,321	H41L	probably benign	Het
Mcm2	T	G	6: 88,891,794	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,395,121	I503T	possibly damaging	Het
Nqo1	T	C	8: 107,392,647	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,490,552	H845R	probably damaging	Het
Otogl	C	T	10: 107,763,200	C2254Y	probably damaging	Het
Pmm1	T	C	15: 81,956,214	N110S	probably damaging	Het
Poc1b	G	T	10: 99,134,337	C68F	probably benign	Het
Polr1b	A	G	2: 129,123,922	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,098,636	H119R	probably damaging	Het
Pum3	A	G	19: 27,426,012	S30P	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rusc1	T	C	3: 89,091,887	E196G	possibly damaging	Het
Sf3a3	A	G	4: 124,714,979	K29E	probably benign	Het
Slc13a1	A	T	6: 24,092,312	I475K	probably damaging	Het
Slc26a5	G	T	5: 21,837,246	Y237*	probably null	Het
Slc7a14	C	T	3: 31,227,063	G366D	probably damaging	Het
Tbc1d5	A	G	17: 50,800,082	V482A	probably benign	Het
Tdrd5	G	T	1: 156,259,935	Q883K	probably benign	Het
Tet2	T	C	3: 133,473,630	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,023,320	D739G	unknown	Het
Vmn1r122	A	T	7: 21,133,895	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,880,988	K216*	probably null	Het
Vmn2r11	A	T	5: 109,053,415	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,788,717	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,306,505	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,408,136	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,294,001	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,607,029		probably null	Het

Other mutations in Enah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Enah	APN	1	181935696	intron	probably benign
IGL01996:Enah	APN	1	181956505	missense	unknown
R0025:Enah	UTSW	1	181913373	missense	possibly damaging	0.53
R0612:Enah	UTSW	1	181906448	splice site	probably benign
R1005:Enah	UTSW	1	181961930	splice site	probably benign
R1075:Enah	UTSW	1	181956501	missense	unknown
R1589:Enah	UTSW	1	181922293	missense	probably damaging	1.00
R1601:Enah	UTSW	1	181919620	nonsense	probably null
R1607:Enah	UTSW	1	181917197	critical splice donor site	probably null
R1785:Enah	UTSW	1	181956429	missense	unknown
R2035:Enah	UTSW	1	181921972	missense	probably damaging	1.00
R2037:Enah	UTSW	1	181921972	missense	probably damaging	1.00
R2119:Enah	UTSW	1	181921753	missense	probably damaging	0.98
R2180:Enah	UTSW	1	181918459	missense	probably damaging	1.00
R2233:Enah	UTSW	1	181921972	missense	probably damaging	1.00
R4348:Enah	UTSW	1	181922420	missense	possibly damaging	0.94
R4350:Enah	UTSW	1	181922420	missense	possibly damaging	0.94
R4576:Enah	UTSW	1	181919563	missense	possibly damaging	0.79
R4956:Enah	UTSW	1	181918289	missense	probably damaging	0.98
R5230:Enah	UTSW	1	181935670	intron	probably benign
R5282:Enah	UTSW	1	181935728	splice site	probably null
R5505:Enah	UTSW	1	181906453	splice site	probably benign
R5813:Enah	UTSW	1	181931185	intron	probably benign
R6324:Enah	UTSW	1	181918571	missense	probably damaging	1.00
R6374:Enah	UTSW	1	181923580	missense	unknown
R6503:Enah	UTSW	1	181918511	missense	probably damaging	1.00
R6513:Enah	UTSW	1	182014355	intron	probably benign
R6925:Enah	UTSW	1	181905898	critical splice acceptor site	probably null
R6925:Enah	UTSW	1	181905899	critical splice acceptor site	probably null
R7308:Enah	UTSW	1	181906385	critical splice donor site	probably null
R7453:Enah	UTSW	1	181961905	missense	unknown
R7759:Enah	UTSW	1	181918444	missense	unknown
R9060:Enah	UTSW	1	181922252	missense	probably damaging	1.00
R9137:Enah	UTSW	1	181911595	critical splice donor site	probably null
R9335:Enah	UTSW	1	181921885	missense	probably damaging	1.00
R9458:Enah	UTSW	1	181918542	missense	unknown
RF024:Enah	UTSW	1	181921934	frame shift	probably null
RF032:Enah	UTSW	1	181921929	frame shift	probably null
RF038:Enah	UTSW	1	181921935	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGAGAAGAGGGTGTGTTCAC -3'
(R):5'- CTGTCATCCACGTTTGTGCG -3'

Sequencing Primer
(F):5'- TGTGTTCACAGGAGAAGAAGGTC -3'
(R):5'- ATGCTGGTCTCGGGCTTCAC -3'

Posted On

2019-06-26